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Volumn 11, Issue 4, 2000, Pages 649-657

X-linked Alport syndrome: Natural history in 195 families and genotype- phenotype correlations in males

(25)  Jais, Jean Philippe a   Knebelmann, Bertrand b   Giatras, Iannis b   De Marchi, Mario j   Rizzoni, Gianfranco j   Renieri, Alessandra j   Weber, Manfred c   Gross, Oliver c   Netzer, Kai Olaf c   Flinter, Frances j   Pirson, Yves j   Verellen, Christine j   Wieslander, JÖRGEN d   Persson, Ulf d   Tryggvason, Karl e   Martin, Paula e   Hertz, Jens Michael j   Schröder, Cornelis j   Sanak, Marek f   Krejcova, Sarka g   more..

b INSERM   (France)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 4;

EID: 0034073758     PISSN: 10466673     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (471)

References (32)
  • 1
    • 84965236793 scopus 로고
    • Hereditary familial congenital haemorrhagic nephritis
    • Alport AC: Hereditary familial congenital haemorrhagic nephritis. Br Med J (Clin Res) 1: 504-506, 1927
    • (1927) Br Med J (Clin Res) , vol.1 , pp. 504-506
    • Alport, A.C.1
  • 2
  • 5
    • 0015421264 scopus 로고
    • Characteristic ultrastructural lesion of the glomerular lesion of the glomerular basement membrane in progressive hereditary nephritis (Alport's syndrome)
    • Hinglais N, Grünfeld JP, Bois E: Characteristic ultrastructural lesion of the glomerular lesion of the glomerular basement membrane in progressive hereditary nephritis (Alport's syndrome). Lab Invest 21: 473-487, 1972
    • (1972) Lab Invest , vol.21 , pp. 473-487
    • Hinglais, N.1    Grünfeld, J.P.2    Bois, E.3
  • 6
    • 0015428067 scopus 로고
    • Alport's syndrome: Emphasizing electron microscopic studies of the glomerulus
    • Spear GS, Slusser RJ: Alport's syndrome: Emphasizing electron microscopic studies of the glomerulus. Am J Pathol 69: 213-224, 1972
    • (1972) Am J Pathol , vol.69 , pp. 213-224
    • Spear, G.S.1    Slusser, R.J.2
  • 7
    • 0015874467 scopus 로고
    • Pathologic characteristics of hereditary nephritis
    • Churg J, Sherman RL: Pathologic characteristics of hereditary nephritis. Arch Pathol 95: 374-379, 1973
    • (1973) Arch Pathol , vol.95 , pp. 374-379
    • Churg, J.1    Sherman, R.L.2
  • 9
    • 0024790809 scopus 로고
    • Twenty-three years of dialysis and transplantation in Europe: Experiences of the EDTA registry
    • Wing AJ, Brunner FP: Twenty-three years of dialysis and transplantation in Europe: Experiences of the EDTA registry. Am J Kidney Dis 14: 341-346, 1989
    • (1989) Am J Kidney Dis , vol.14 , pp. 341-346
    • Wing, A.J.1    Brunner, F.P.2
  • 15
    • 0029686806 scopus 로고    scopus 로고
    • Mutations in type IV collagen genes and Alport phenotypes
    • edited by Tryggvason K, Basel, Karger
    • Tryggvason K: Mutations in type IV collagen genes and Alport phenotypes. In: Molecular Pathology and Genetics of Alport Syndrome, edited by Tryggvason K, Basel, Karger, 1996, pp 154-171
    • (1996) Molecular Pathology and Genetics of Alport Syndrome , pp. 154-171
    • Tryggvason, K.1
  • 17
    • 0028285270 scopus 로고    scopus 로고
    • Structure of the human type IV collagen COL4A5 gene
    • Zhou J, Leinonen A, Tryggvason K: Structure of the human type IV collagen COL4A5 gene. J Biol Chem 269: 6608-6614, 1997
    • (1997) J Biol Chem , vol.269 , pp. 6608-6614
    • Zhou, J.1    Leinonen, A.2    Tryggvason, K.3
  • 18
    • 0026765405 scopus 로고
    • Complete amino acid sequence of the human α5(IV) collagen chain and identification of a single base mutation in exon 23 converting glycine-521 in the collagenous domain to cystein in an Alport syndrome patient
    • Zhou J, Hertz JM, Leinonen A, Tryggvason K: Complete amino acid sequence of the human α5(IV) collagen chain and identification of a single base mutation in exon 23 converting glycine-521 in the collagenous domain to cystein in an Alport syndrome patient. J Biol Chem 267: 12475-12481, 1992
    • (1992) J Biol Chem , vol.267 , pp. 12475-12481
    • Zhou, J.1    Hertz, J.M.2    Leinonen, A.3    Tryggvason, K.4
  • 22
    • 0029930996 scopus 로고    scopus 로고
    • The COL4A5 gene in Japanese Alport syndrome patients: Spectrum of mutations of all exons
    • Kawai S, Nomura S, Harano T, Harano K, Fukushima T, Osawa G: The COL4A5 gene in Japanese Alport syndrome patients: Spectrum of mutations of all exons. Kidney Int 49: 814-822, 1996
    • (1996) Kidney Int , vol.49 , pp. 814-822
    • Kawai, S.1    Nomura, S.2    Harano, T.3    Harano, K.4    Fukushima, T.5    Osawa, G.6
  • 24
    • 0032965096 scopus 로고    scopus 로고
    • Detection of mutations in COL4A5 in patients with Alport syndrome
    • Plant KE, Green PM, Vetrie D, Flinter FA: Detection of mutations in COL4A5 in patients with Alport syndrome. Hum Mutat 13: 124-132, 1999
    • (1999) Hum Mutat , vol.13 , pp. 124-132
    • Plant, K.E.1    Green, P.M.2    Vetrie, D.3    Flinter, F.A.4
  • 26
    • 0031747294 scopus 로고    scopus 로고
    • Ultrastructural and immunohistochemical findings in Alport's syndrome: A study of 108 patients from 97 Italian families with particular emphasis on COL4A5 gene mutation correlations
    • Mazzucco G, Barsotti P, Muda AO, Fortunato M, Mihatsch M, Torri-Tarelli L, Renieri A, Faraggiana T, De Marchi M, Monga G: Ultrastructural and immunohistochemical findings in Alport's syndrome: A study of 108 patients from 97 Italian families with particular emphasis on COL4A5 gene mutation correlations. J Am Soc Nephrol 9: 1023-1031, 1998
    • (1998) J Am Soc Nephrol , vol.9 , pp. 1023-1031
    • Mazzucco, G.1    Barsotti, P.2    Muda, A.O.3    Fortunato, M.4    Mihatsch, M.5    Torri-Tarelli, L.6    Renieri, A.7    Faraggiana, T.8    De Marchi, M.9    Monga, G.10
  • 27
    • 84892372742 scopus 로고
    • The robust inference for the Cox proportional hazards model
    • Lin DY, Wei LJ: The robust inference for the Cox proportional hazards model. J Am Stat Assoc 84: 1074-1078, 1989
    • (1989) J Am Stat Assoc , vol.84 , pp. 1074-1078
    • Lin, D.Y.1    Wei, L.J.2
  • 28
    • 0031181897 scopus 로고    scopus 로고
    • Recurrent corneal erosion associated with Alport's syndrome
    • Rhys C, Snyers B, Pirson Y: Recurrent corneal erosion associated with Alport's syndrome. Kidney Int 52: 208-211, 1997
    • (1997) Kidney Int , vol.52 , pp. 208-211
    • Rhys, C.1    Snyers, B.2    Pirson, Y.3
  • 30
    • 0026752763 scopus 로고
    • Substitution of arginine for glycine 325 in the collagen α5(IV) chain associated with X-linked Alport syndrome: Characterization of the mutation by direct sequencing of PCR-amplified lymphoblast cDNA fragments
    • Knebelmann B, Deschênes G, Gros F, Hors MC, Grünfeld JP, Tryggvason K, Gubler MC, Antignac C: Substitution of arginine for glycine 325 in the collagen α5(IV) chain associated with X-linked Alport syndrome: Characterization of the mutation by direct sequencing of PCR-amplified lymphoblast cDNA fragments. Am J Hum Genet 51: 135-142, 1992
    • (1992) Am J Hum Genet , vol.51 , pp. 135-142
    • Knebelmann, B.1    Deschênes, G.2    Gros, F.3    Hors, M.C.4    Grünfeld, J.P.5    Tryggvason, K.6    Gubler, M.C.7    Antignac, C.8


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.